Source: ALL

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs17757541
rs17757541
BCL2
0.827 0.240 18 63212453 intron variant C/G;T snv
CUI: C0001418
Disease: Adenocarcinoma
Adenocarcinoma 		0.010 1.000 1 2013 2013
dbSNP: rs17757541
rs17757541
BCL2
0.827 0.240 18 63212453 intron variant C/G;T snv
CUI: C0279628
Disease: Adenocarcinoma Of Esophagus
Adenocarcinoma Of Esophagus 		0.010 1.000 1 2011 2011
dbSNP: rs720321
rs720321
BCL2
1.000 0.080 18 63215417 intron variant G/A snv 0.21
CUI: C0279628
Disease: Adenocarcinoma Of Esophagus
Adenocarcinoma Of Esophagus 		0.010 1.000 1 2011 2011
dbSNP: rs4940576
rs4940576
BCL2
0.925 0.040 18 63181406 intron variant T/A;C snv
CUI: C0410702
Disease: Adolescent idiopathic scoliosis
Adolescent idiopathic scoliosis 		0.700 1.000 2 2015 2017
dbSNP: rs7226979
rs7226979
BCL2
0.925 0.120 18 63257737 intron variant C/T snv 0.42
CUI: C0002170
Disease: Alopecia
Alopecia 		0.700 1.000 1 2017 2017
dbSNP: rs956572
rs956572
BCL2
0.742 0.280 18 63153338 intron variant A/G snv 0.65
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		0.010 1.000 1 2018 2018
dbSNP: rs12454712
rs12454712
BCL2
0.925 0.120 18 63178651 intron variant T/A;C snv
CUI: C0003469
Disease: Anxiety Disorders
Anxiety Disorders 		0.010 1.000 1 2010 2010
dbSNP: rs17759659
rs17759659
BCL2
0.851 0.120 18 63291411 intron variant A/G snv 0.31
CUI: C0920350
Disease: Autoimmune thyroiditis
Autoimmune thyroiditis 		0.010 1.000 1 2017 2017
dbSNP: rs1800477
rs1800477
BCL2
0.763 0.480 18 63318540 missense variant C/T snv 1.8E-02 4.9E-03
CUI: C0004509
Disease: Azoospermia
Azoospermia 		0.010 1.000 1 2010 2010
dbSNP: rs17757541
rs17757541
BCL2
0.827 0.240 18 63212453 intron variant C/G;T snv
CUI: C0079731
Disease: B-Cell Lymphomas
B-Cell Lymphomas 		0.020 1.000 2 2013 2015
dbSNP: rs1800477
rs1800477
BCL2
0.763 0.480 18 63318540 missense variant C/T snv 1.8E-02 4.9E-03
CUI: C0079731
Disease: B-Cell Lymphomas
B-Cell Lymphomas 		0.010 1.000 1 2012 2012
dbSNP: rs956572
rs956572
BCL2
0.742 0.280 18 63153338 intron variant A/G snv 0.65
CUI: C1868683
Disease: B-CELL MALIGNANCY, LOW-GRADE
B-CELL MALIGNANCY, LOW-GRADE 		0.010 1.000 1 2018 2018
dbSNP: rs956572
rs956572
BCL2
0.742 0.280 18 63153338 intron variant A/G snv 0.65
CUI: C0005586
Disease: Bipolar Disorder
Bipolar Disorder 		0.030 0.667 3 2011 2016
dbSNP: rs956572
rs956572
BCL2
0.742 0.280 18 63153338 intron variant A/G snv 0.65
CUI: C0853193
Disease: Bipolar I disorder
Bipolar I disorder 		0.020 0.500 2 2011 2013
dbSNP: rs956572
rs956572
BCL2
0.742 0.280 18 63153338 intron variant A/G snv 0.65
CUI: C0236788
Disease: Bipolar II disorder
Bipolar II disorder 		0.010 1.000 1 2011 2011
dbSNP: rs17758695
rs17758695
BCL2
18 63253621 intron variant C/T snv 2.1E-02
CUI: C0200641
Disease: Blood basophil count (lab test)
Blood basophil count (lab test) 		0.700 1.000 1 2016 2016
dbSNP: rs8094630
rs8094630
BCL2
18 63167937 intron variant A/G;T snv 0.29
CUI: C2985280
Disease: Blood Protein Measurement
Blood Protein Measurement 		0.700 1.000 1 2018 2018
dbSNP: rs12454712
rs12454712
BCL2
0.925 0.120 18 63178651 intron variant T/A;C snv
CUI: C1305855
Disease: Body mass index
Body mass index 		0.700 1.000 5 2016 2019
dbSNP: rs956572
rs956572
BCL2
0.742 0.280 18 63153338 intron variant A/G snv 0.65
CUI: C0006012
Disease: Borderline Personality Disorder
Borderline Personality Disorder 		0.010 1.000 1 2011 2011
dbSNP: rs747504890
rs747504890
BCL2
0.925 0.080 18 63318285 missense variant C/T snv 2.4E-05
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.030 1.000 3 2002 2004
dbSNP: rs2279115
rs2279115
BCL2
0.724 0.320 18 63319604 5 prime UTR variant G/A;T snv
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.010 1.000 1 2017 2017
dbSNP: rs956572
rs956572
BCL2
0.742 0.280 18 63153338 intron variant A/G snv 0.65
CUI: C0006287
Disease: Bronchopulmonary Dysplasia
Bronchopulmonary Dysplasia 		0.010 1.000 1 2011 2011
dbSNP: rs2279115
rs2279115
BCL2
0.724 0.320 18 63319604 5 prime UTR variant G/A;T snv
CUI: C0751075
Disease: Cancer of Digestive System
Cancer of Digestive System 		0.010 1.000 1 2017 2017
dbSNP: rs780634396
rs780634396
BCL2
0.882 0.120 18 63318618 missense variant T/C snv 4.0E-06
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis 		0.010 1.000 1 2010 2010
dbSNP: rs3744935
rs3744935
BCL2
0.882 0.080 18 63127447 3 prime UTR variant C/T snv 6.0E-03
CUI: C4048328
Disease: cervical cancer
cervical cancer 		0.010 1.000 1 2016 2016